PEX26

Ideogram human chromosome 22

PEX26 PEX26 is a gene that encodes a protein involved in peroxisome biogenesis. Mutations in the PEX26 gene can lead to peroxisome biogenesis disorders, which are a group of rare genetic disorders characterized by the impaired formation and function of peroxisomes.

Function

The PEX26 protein plays a crucial role in the import of proteins into peroxisomes and the biogenesis of these organelles. It is involved in the targeting and insertion of peroxisomal membrane proteins.

Clinical Significance

Mutations in the PEX26 gene can result in peroxisome biogenesis disorders, such as Zellweger syndrome spectrum disorders. These disorders are characterized by a range of symptoms including developmental delays, neurological abnormalities, and liver dysfunction.

Research

Research on PEX26 and peroxisome biogenesis disorders is ongoing, with a focus on understanding the molecular mechanisms underlying these conditions and developing potential therapeutic interventions.

See also

• Peroxisome
• Peroxisome biogenesis disorder

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